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Sanfilippo disease

Last Updated on Thursday, 04 March 2010 10:28

The Sanfilippo Syndrome, named after Dr. Sylvester Sanfilippo who described the condition in 1963, is a Mucopolysaccharidosis of type III (MPSIII), due to the deficiency of a of a lyosomal enzyme called heparan N-sulfatase. Heparan N-sulfatase is a crucial actor in the catabolism of heparan sulfate. Deficiency of heparan N-sulfatase leads to severe nervous degeneration and to death between the age of 10 and 20.

Four types of MPSIII have been found, types A, B, C and D, referring to the specific enzyme which is deficient in the breaking down of heparan sulfate.

The enzyme enables the transformation of substance A into B, substance B into C, C into D and D into the final substance which must be eliminated :
In the case of a child affected by the Sanfilippo Syndrome of Type A, the enzyme transforms substance A into a deficient substance B. This results in an excess of substance A that the body cannot eliminate and that will be stored directly inside the brain. Furthermore, substances B, C and D will not exist in sufficient doses in the child's body.
Les enfants A child suffering from Sanfilippo Syndrome displays no anomaly at birth, the first symptoms appearing between 2 and 6 years of age. The first sign of the disease is a change in the child's behaviour. From then onwards the evolution of the child is gradual.

The disease being progressive, the child becomes hyperactive and frequently has great difficulty to learn. Some children sleep very little at night. Others are never toilet-trained or lose the ability to walk. Language and understanding are gradually lost.

The diagnosis is made by the evidencing of a deficiency in heparan N-sulfatase during fibroblast breeding, or by the evidencing of a urinary secretion of heparan N-sulfatase.




MPSIII is a rare recessive genetic disease. Its prevalence is difficult to establish as it is presumably under-diagnosed, but it can be estimated at 1 : 70'000 births.

Several associations promoting the research of efficient therapeutic solutions for children suffering from mucopolysaccharide disease of type III now exist throughout the world. But after extensive research we ascertained that none was established here in Switzerland. MPSIII, however, has no such boundaries.

Some tell us that the disease which affects our children is incurable. We will not accept this and sit waiting for Fate to unfold. This is why we wish to join our efforts to join together in our effort to overcome MPSIII.

Fortunately research is now making significant progress, but it requires great mobilization of funds and of people. Thus, through lack of means, certain tests were not seen through to completion; others had to be postponed.

Several major therapeutic programs are under development for the treatment of Sanfilippo Syndrome. They include an intracerebral gene therapy program, or research on enzyme therapy. These are programs that we must support with human and financial means so that they are not abandoned for simple lack of sufficient resources to carry them through.
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